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1.
Arch. Soc. Esp. Oftalmol ; 99(4): 169-172, abr. 2024. ilus, tab
Article in Spanish | IBECS | ID: ibc-232138

ABSTRACT

Caso clínico: Niña de 10 años con dismorfia facial, escoliosis, baja talla, hipotonía muscular, foramen oval permeable y retraso madurativo, acude a consulta para corrección de ectropión congénito bilateral. Al examen oftalmológico se constató ectropión palpebral inferior, euribléfaron y lagoftalmos bilaterales, con fenómeno de Bell positivo. Se realizaron injertos cutáneos autólogos de espesor completo en párpados inferiores con cantoplastia lateral bilateral, resolviendo el ectropión y mejorando la oclusión palpebral. Posteriormente, se hizo un estudio genético que reveló una mutación en el gen PTPN11 y permitió, junto a la clínica, hacer el diagnóstico de síndrome de Noonan (SN).DiscusiónEl SN es un trastorno genético multisistémico con una gran variedad de fenotipos, que suele cursar con alteraciones oculares y perioculares. El ectropión palpebral, característica distintiva de la paciente, es una manifestación oftalmológica infrecuente de este síndrome que puede corregirse con injerto cutáneo de espesor completo y cantoplastia lateral. (AU)


Case report: Ten-year-old female patient, with facial dysmorphia, scoliosis, short stature, muscular hypotonia, patent foramen ovale and maturational delay, presented for correction of bilateral congenital ectropion. Ophthalmological examination revealed bilateral lower eyelid ectropion, euryblepharon and lagophthalmos, with a positive Bell's phenomenon. She was treated with full-thickness autologous skin grafts on the lower eyelids with bilateral lateral canthoplasty, resolving the ectropion and improving eyelid occlusion. Subsequently, a genetic study was performed that revealed a mutation in the PTPN11 gene and allowed, together with the clinical picture, to make the diagnosis of Noonan syndrome.DiscussionNoonan syndrome is a multisystem genetic disorder with a wide variety of phenotypes, which usually presents with ocular and periocular disorders. Eyelid ectropion, a distinctive feature of this patient, is a rare ophthalmological manifestation of this syndrome that can be corrected with full-thickness skin graft and lateral canthoplasty. (AU)


Subject(s)
Humans , Female , Child , Noonan Syndrome , Ectropion , Genetic Diseases, Inborn , Heart Defects, Congenital
2.
Arch Soc Esp Oftalmol (Engl Ed) ; 99(4): 169-172, 2024 Apr.
Article in English | MEDLINE | ID: mdl-38309657

ABSTRACT

Ten-year-old female patient, with facial dysmorphia, scoliosis, short stature, muscular hypotonia, patent foramen ovale and maturational delay, presented for correction of bilateral congenital ectropion. Ophthalmological examination revealed bilateral lower eyelid ectropion, euryblepharon and lagophthalmos, with a positive Bell's phenomenon. She was treated with full-thickness autologous skin grafts on the lower eyelids with bilateral lateral canthoplasty, resolving the ectropion and improving eyelid occlusion. Subsequently, a genetic study was performed that revealed a mutation in the PTPN11 gene and allowed, together with the clinical picture, to make the diagnosis of Noonan syndrome. Noonan syndrome is a multisystem genetic disorder with a wide variety of phenotypes, which usually presents with ocular and periocular disorders. Eyelid ectropion, a distinctive feature of this patient, is a rare ophthalmological manifestation of this syndrome that can be corrected with full-thickness skin graft and lateral canthoplasty.


Subject(s)
Ectropion , Eye Diseases , Noonan Syndrome , Female , Humans , Ectropion/etiology , Ectropion/surgery , Noonan Syndrome/complications , Noonan Syndrome/diagnosis , Noonan Syndrome/genetics , Eyelids/surgery , Eye Diseases/diagnosis , Skin Transplantation
3.
Arch Soc Esp Oftalmol ; 92(4): 181-183, 2017 Apr.
Article in English, Spanish | MEDLINE | ID: mdl-27793489

ABSTRACT

CASE REPORT: A male patient with an exposure keratopathy caused by lagophthalmos. A gold weight was implanted in the right upper eyelid. Eight months later, he presented with erythema and swelling of right upper eyelid. An incisional biopsy was performed, reporting extranodal marginal zone B cell lymphoma. DISCUSSION: when a tumour at the site of a gold weight implant is refractory to treatment, it is essential to perform an incisional biopsy to establish the histopathological diagnosis. Ocular adnexal lymphomas are relatively common. The presence of foreign material can cause chronic inflammation that could be the stimulus for the development of a lymphoproliferative disorder.


Subject(s)
Eyelid Neoplasms/etiology , Lymphoma, B-Cell, Marginal Zone/etiology , Postoperative Complications/etiology , Prostheses and Implants/adverse effects , Aged , Eyelid Diseases/surgery , Gold , Humans , Male
4.
Curr Opin Ophthalmol ; 12(5): 352-6, 2001 Oct.
Article in English | MEDLINE | ID: mdl-11588497

ABSTRACT

We will refer to lacrimal system pathologies involving the outflow pathways, as well as to the recent advances in the management of canalicular and lacrimonasal duct anomalies, including modifications to dacrycystorhinostomy technique, treatment for congenital obstructions, and lacrimal intubations. Special emphasis will be placed on the usefulness of nasal and canalicular endoscopy for the examination and treatment of congenital obstructions and endonasal pathologies, as an aid for intubations and lacrimal surgery, as well as on reasons for failed procedures.


Subject(s)
Lacrimal Apparatus Diseases , Nasolacrimal Duct , Humans , Lacrimal Apparatus Diseases/diagnosis , Lacrimal Apparatus Diseases/surgery , Nasolacrimal Duct/pathology , Nasolacrimal Duct/surgery
5.
Arch Soc Esp Oftalmol ; 76(7): 445-6, 2001 Jul.
Article in Spanish | MEDLINE | ID: mdl-11438883

ABSTRACT

PURPOSE: We present a case of traumatic luxation of the ocular globe into the maxillary sinus. MATERIAL AND METHODS: Male patient, 23 years old with orbito-facial trauma and traumatic luxation of his right ocular globe into the maxillary sinus. CONCLUSION: To present an unusual case of traumatic prolapse of an undamaged ocular globe into a paranasal sinus.


Subject(s)
Eye Injuries/complications , Maxillary Sinus , Orbital Fractures/complications , Adult , Eye Injuries/pathology , Humans , Magnetic Resonance Imaging , Male , Orbital Fractures/pathology
6.
Arch. Soc. Esp. Oftalmol ; 76(7): 445-446, jul. 2001.
Article in Es | IBECS | ID: ibc-9027

ABSTRACT

Objetivo: Presentar un caso de luxación traumática de globo ocular en el seno maxilar. Material y métodos: Paciente masculino de 23 años de edad con trauma órbito-facial y luxación de globo ocular derecho en el seno maxilar. Conclusiones: Presentar un inusual caso de prolapso traumático de globo ocular entero en un seno paranasal (AU)


No disponible


Subject(s)
Adult , Male , Humans , Maxillary Sinus , Orbital Fractures , Magnetic Resonance Imaging , Eye Injuries
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